SUFU gene

SUFU negative regulator of hedgehog signaling

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

From UniProt:

Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24311597, PubMed:24217340). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Required for normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation.

From NCBI Gene:

  • Gorlin syndrome
  • Medulloblastoma
  • Meningioma, familial

From UniProt:

Medulloblastoma (MDB): Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. [MIM:155255]

Cytogenetic Location: 10q24.32, which is the long (q) arm of chromosome 10 at position 24.32

Molecular Location: base pairs 102,502,879 to 102,633,458 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.32, which is the long (q) arm of chromosome 10 at position 24.32
  • PRO1280
  • SUFUH
  • SUFUXL